Pulmonary Veno-Occlusive Disease: Diagnosis During Arch Dis Child: First Published As 10.1136/Adc.68.1.97 on 1 January 1993
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Archives ofDtsease in Childhood 1993; 68: 97-100 97 Pulmonary veno-occlusive disease: diagnosis during Arch Dis Child: first published as 10.1136/adc.68.1.97 on 1 January 1993. Downloaded from life in four patients R N Justo, A J Dare, C M Whight, D J Radford Abstract Case reports Pulmonary veno-occlusive disease is a rare CASE 1 form of primary pulmonary hypertension of A seven year old boy presented in 1973 with a unknown aetiology. Four cases were diagnosed four month history of increasingly frequent in young patients. The diagnosis was sus- recurrent episodes of acute dyspnoea, sweating, pected on the basis of clinical, radiological, and abdominal pain. These episodes usually echocardiographic, and catheter evidence and lasted about one hour and settled spontaneously. confirmed by taking a lung biopsy sample. In He had mild asthma as an infant but was all patients the histology showed obstruction without symptoms for the previous three years. of the pulmonary veins by intimal fibrosis. On clinical examination he was a healthy boy The clinical course of all patients has been without cyanosis who had neither tachycardia one of progressive deterioration. Although nor tachypnoea at rest. He was hypertensive there is no specific treatment for this disease, with a blood pressure of 150/80 mm Hg. A right to establish the diagnosis during life is of great ventricular heave was present. Cardiac ausculta- importance in overall clinical management, tion showed an accentuated pulmonary com- including counselling the patient and family. ponent of the second heart sound but no murmurs, and normal breath sounds were heard on auscultation of his chest. Chest radio- (Arch Dis Child 1993;68:97-100) graphy showed a normal cardiac outline but pulmonary changes were consistent with acute Pulmonary veno-occlusive disease is an un- pulmonary oedema (fig 1). common disorder characterised by pulmonary Thepatient underwentcardiac catheterisation. hypertension secondary to progressive obstruc- These original records were not available for tion of the pulmonary veins and venules.' review, but the haemodynamic findings were Approximately 100 cases have been reported in interpreted as being 'consistent with a left atrial detail and the clinical diagnosis has not often lesion', whereas angiography showed normal http://adc.bmj.com/ been made during life.2 Four patients with this cardiac anatomy. As a result of these apparent disease who were managed at our hospital inconsistencies, surgical exploration of the right during the past 18 years are presented in and left atria was performed. This showed the chronological order. They were all diagnosed presence of four normal pulmonary veins and during life and illustrate varied presentations, confirmed normal cardiac anatomy. During the use of investigative modalities, and natural operation the pulmonary artery peak systolic history. pressure was 50 mm Hg and the mean pulmonary on October 1, 2021 by guest. Protected copyright. Department of Paediatric Cardiology, The Prince Charles Hospital, Brisbane, Queensland, Australia R N Justo A J Dare C M Whight D J Radford Correspondence to: Dr D J Radford, Department of Cardiology, The Prince Charles Hospital, Rode Road, Chermside, Figure I (A) Chest radiograph ofcase I taken at the age of8years, showing normal cardiothoracic ratio, prominent main Queensland, Australia 4032. pulmonary artery, and pulmonary oedema. (B) Chest radiograph ofthe same patient taken 15 months later, showing Accepted 13 August 1992 progresstve radiological changes. 98 8Justo, Dare, Whight, Radford venous pressure was 4 mm Hg. In view of these CASE 3 findings, a lung biopsy sample was taken and An 11 year old girl with dysmorphic features, the diagnosis of pulmonary veno-occlusive developmental delay, and cardiac abnormalities Arch Dis Child: first published as 10.1136/adc.68.1.97 on 1 January 1993. Downloaded from disease confirmed histologically. was admitted in early 1991 for investigation of He recovered well after the operation but the increasing dyspnoea. She had developed asthma subsequent course of his illness was progressive at the age of 5 years and, apart from intermittent deterioration with intermittent hospital admis- exacerbations of her asthma, remained well sions. He was treated with digoxin, frusemide, until the age of 9 years. At this time she warfarin, and with oxygen at home. This developed exertional dyspnoea which progressed regimen did not significantly alter the course of slowly over the next two years, by which time his illness, however, and he finally died 18 she became dyspnoeic at rest. months after the onset of symptoms. Permission She had congenital heart disease consisting of for a necropsy was refused. coarctation of the aorta, bicuspid aortic valve, and subaortic membrane. The coarctation was originally repaired at the age of 6 months. At CASE 2 the age of 5 years, the coarctation was revised A 17 year old presented in 1979 with an eight and a subaortic membrane was resected. She week history of malaise and progressive exer- also had some dysmorphic features including tional dyspnoea which followed an acute febrile short stature, mid facial hypoplasia, prominant illness. She was referred for further investigation nasal bridge, deep set eyes, small hands, and as she was observed to become cyanosed and clinodactyly of the fifth finger, which had not dyspnoeic after minimal exertion. The only been classified into any syndrome. Chromo- relevant past history was an episode of ence- somal analysis was normal. phalitis following infectious mononucleosis at On examination she was not cyanosed at rest. the age of 9 years. She had not taken any Her respiratory rate was 50 per minute. The drugs. pulmonary component of the second heart Clinically, she was a healthy girl without sound was loud and there was a grade 2/6 resting cyanosis. On palpation there was a right ejection murmur in the pulmonary area. Aus- ventricular heave. Cardiac auscultation showed cultation of the chegt showed fine basal inspira- an accentuated pulmonary second heart sound, tory crackles. The electrocardiogram showed tricuspid regurgitation, and pulmonary regur- sinus rhythm and RSR in lead VI, whereas on gitation. Her breath sounds were vesicular and chest radiography there was mild cardiomegaly, the remainder of the physical examination was bilateral perihilar changes, and diffusely in- normal. The electrocardiograph showed sinus creased reticular markings. rhythm, right atrial, and right ventricular Echocardiography excluded left sided cardiac hypertrophy, and chest radiography showed lesions and pulmonary vein ostial stenosis as a prominant pulmonary arteries, increased reti- cause for the respiratory symptoms. She had cular markings, and Kerly B lines, with a had a recent left heart catheter study, but not a http://adc.bmj.com/ normal cardiac outline. right heart study because of venous access Arterial blood gas analysis confirmed the problems. As no important cardiac disease presence ofhypoxaemia (oxygen partial pressure could be shown it was felt that a lung biopsy 52 mm Hg) and respiratory function testing sample should be taken to exclude interstitial showed the presence of a restrictive defect. lung disease. At the operation the right middle Echocardiography showed right ventricular and lower lobes were grossly abnormal with but no hypertrophy other cardiac disease. scarring and reddened discoloration. Pulmonary on October 1, 2021 by guest. Protected copyright. At cardiac catheterisation there was severe veno-occlusive disease was diagnosed histo- pulmonary hypertension (pulmonary artery logically. The findings were typical of the phasic pressure of 65/40 mm Hg with a mean of disease with the small veins affected by 'fluffy' 50 mm Hg) and the pulmonary arterial wedged myxomatous intimal proliferation. There was pressure was 15 mm Hg. Angiography showed no evidence of thrombosis. dilated pulmonary arteries with normal venous On review nine months later, the child was return to the left atrium, though blood flow in tachypnoeic at rest and becoming increasingly the pulmonary circulation was considered to be tired and dyspnoeic with exertion. She required slow. All other investigations including viral oxygen treatment and drug treatment with serology, rheumatoid factor, and antinuclear frusemide, nifedipine, salbutamol (Ventolin, factors were normal. Allen and Hanburys), and beclomethasone On the basis of this information the diagnosis dipropionate (Becotide, Allen and Hanburys). of pulmonary veno-occlusive disease was sug- gested and an open lung biopsy sample was CASE 4 taken. At the operation the lung appeared A 5 month old baby presented in 1991 with a macroscopically normal, but the histology of two day history of irritability, poor feeding, and tissue from the right middle lobe confirmed the tachypnoea. He had been previously well with diagnosis of pulmonary veno-occlusive disease. no past history of cardiac or respiratory symp- After the operation she was treated with toms, though there have been a history of poor oxygen, a heparin infusion, prednisone, aza- weight gain. thioprine, digoxin, and frusemide (Lasix, The child was peripherally shut down on Hoechst). Her respiratory function deteriorated admission. He had small volume peripheral rapidly despite this treatment and she died three pulses and a right ventricular heave. His heart months after the onset of symptoms. Permission sounds were normal and a soft systolic murmur for necropsy was refused. was audible at the lower